Back

HDBR Abnormal Fetal Samples Exome Sequencing Data

The HDBR (www.hdbr.org) is a human embryonic and fetal tissue bank supplying registered researchers with access to these valuable research materials up to 22 weeks post-conception (PCW [PMC4640175]). All of the samples collected are analysed for chromosomal abnormalities, and all samples with an abnormal phenotype are either analysed by SNP array, or exome sequenced. This dataset is generated from those abnormal samples that have been analysed by exome sequencing. To request access to this dataset, or if any researcher is interested in obtaining tissue from any of the samples HDBR collect, please email enquiries@hdbr.org.

Dataset 1 - May 2022 EGAS00001006300

Exome sequencing data from seven phenotypically abnormal human fetal samples. Anaysis perfomed using Illumina NovaSeq 6000, Twist Bioscience - Human Comprehensive Exome. Paired end fastq files were aligned to hg38 reference genome using BWA-MEM v0.7.15, followed by sorting using SAMtools sort v1.3.1, and duplicate reads marked using Picard Tools MarkDuplicates v2.18.2.

Samples used:

Description HDBR ID Phenotype EGA ID Alias Gender Tissue used
Human fetus, 18 PCW   15832

Abnormal left hand & no right foot

EGAN00003552578 11_15832_18PCW male skin
Human fetus, 12 PCW   15854 Face and heart abnormal EGAN00003552570 3_15854_12PCW male skin
Human fetus, 21 PCW
(sample a)  
15861 Cleft palate/lip EGAN00003552579 8_15861_21PCW_A male skin
Human fetus, 21 PCW
(sample b)  
15861 Cleft palate/lip EGAN00003552571 12_15861_21PCW_B male skin
Human fetus, 17 PCW
(sample a)  
15862 Coarctation of aorta EGAN00003552577 2_15862_17PCW_A male skin
Human fetus, 17 PCW
(sample b)  
15862 Coarctation of aorta EGAN00003552580 9_15862_17PCW_B male skin
Human fetus, 12 PCW
(sample a)
15887 Retinitis pigmentosa EGAN00003552574 5_15887_12PCW_A female unknown
Human fetus, 12 PCW
(sample b)
15887 Retinitis pigmentosa EGAN00003552572 6_15887_12PCW_B female unknown
Human fetus, 17 PCW 15922 No tibia or fibula EGAN00003552573 7_15922_17PCW male skin
Human fetus, 15 PCW
(sample a)
15930 Exomphalos major EGAN00003552575 1_15930_15PCW_A male skin
Human fetus, 15 PCW
(sample b)
15930 Exomphalos major EGAN00003552576 10_15930_15PCW_B male skin